Y-chromosome STR haplotype profiling in the Mongolian population

Eleven Y-chromosome STR loci (DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, two DYS385 loci and DXYS156Y) were analyzed in 92 randomly chosen males from Mongolia. Allelic frequencies and gene diversity for each Y-STR locus and haplotype diversity were determined to evaluate their usefulness in forensic casework. A total of 84 different haplotypes were identified, among which 77 (83.7%) were individual-specific. The most frequent haplotype surveyed here was found in three individuals (3.6%), of which the 'minimal haplotype' (excluding DYS388 and DXYS156Y) was not found in the worldwide Y-STR haplotype reference database (YHRD) available at .     

Genetic polymorphisms for 17 Y-chromosomal STRs haplotypes in Chinese Hui population

We have co-amplified 17 Y-chromosomal STRs (including DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and Y GATA H4) for samples of 143 unrelated male individuals of Chinese Hui Ethnic Minority Group. We obtained allelic frequency distribution and haplotype diversity of 17 Y-chromosomal STR for Hui population. A total of 136 different haplotypes were identified in 143 individuals, among which 129 were found only once, and seven haplotypes were found twice. The gene diversity values of STR loci ranged from 0.4161 (DYS391) to 0.9571 (DYS385a,b). The overall haplotype diversity for the 17 Y-STR loci was 0.9933, and the discrimination capacity was 0.9511.     

Genetic polymorphisms for 17 Y-chromosomal STR haplotypes in Jammu and Kashmir Saraswat Brahmin population

In this study 17 Y-chromosomal STRs (including DYS19, DYS389I, DS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y GATA H4) were analysed using blood samples of 122 unrelated male individuals belonging to Saraswat Brahmin community from Jammu (ID YP000599) and Kashmir (ID YP000600) region of J&K state of India. The allelic frequency distribution and haplotype diversity of 17 Y-chromosomal STR for both the populations were calculated. In the Kashmiri Saraswat group, a total of 109 haplotypes were identified in 122 individuals, of these haplotypes, 101 were found only once. The gene diversity values of STR loci ranged from 0.4813 (DYS391) to 0.8645 (DYS385a/b) for Jammu & Kashmiri Saraswat Brahmins.     

Y-chromosomal STR haplotypes in Chinese Uigur ethnic group

We have already coamplified minimal haplotypes (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385I/II), two additional loci, namely, DYS438, DYS439, and Amelogenin, in a single PCR using the Y-PLEX 12 kit. We investigated 107 unrelated male individuals from the Uigur ethnic group and studied the allelic frequency distribution and haplotype diversity of 11 Y-chromosomal STRs. A number of 43 alleles (nine STR loci) and 27 phenotypes (including DYS385) were detected, with frequencies ranging from 0.0092 to 0.6296. A total of 103 haplotypes were identified, among which 99 were individual-specific and four haplotypes were found twice. The haplotype diversity for these 12 Y-STR loci was 0.9993.     

Y-chromosomal STR haplotypes in a Northeast Italian population sample using 17plex loci PCR assay

One hundred fifty-five unrelated, autochthonous healthy males from Northeast Italy were typed for the 17 Y-chromosome short tandem repeat (STR) (Y-STR) loci DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4, DYS437, DYS438, DYS448 using the AmpFLSTR Yfiler polymerase chain reaction amplification kit. A total of 153 different haplotypes were observed, and among these, 151 were unique, while 2 were found two times. The overall haplotype diversity was 0.9997. Furthermore, 50 father–son pairs, previously confirmed by autosomal STR analysis, were typed using the same set of 17 Y-STR loci, and, among 850 allele transfers, three mutation events were identified, giving an average mutation rate of 3.53×10⁻³ per locus per generation (95% confidence interval 0.73–1.03). Electronic supplementary material Supplementary material is available for this article at     

Genetic polymorphisms of 17 Y-STRs haplotypes in Chinese Han population residing in Shandong province of China

We have co-amplified (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and Y GATA H4) in a single PCR using the AmpFLSTR Yfiler PCR Amplification system. Allelic frequency distribution and haplotype diversity of 17 Y-chromosomal STR from a sample of 131 unrelated individuals of Chinese Han population living in Shandong province of China were obtained. A total of 129 haplotypes were observed in the 131 individuals studied, of which 127 were unique and two were found in two individuals. The gene diversity values ranged from 0.3560 (DYS391) to 0.9675 (DYS385a,b), The overall haplotype diversity for the 17 Y-STR loci was 0.9998, and the discrimination capacity was 0.9695. These results are compared with those observed in worldwide populations at both the locus and the haplotype level.     

The effects of Asian population substructure on Y STR forensic analyses

A total of 3046 males of Chinese, Malay, Thai, Japanese, and Indian population affinity were previously typed for the Y STR loci DYS19, DYS385 (counted as two loci), DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS456, DYS458, DYS635, DYS448, and Y GATA H4 using the AmpFlSTR® Yfiler™ kit. These samples were assessed for population genetic parameters that impact forensic statistical calculations. All population samples were highly polymorphic for the 16 Y STR markers with the marker DYS385 being the most polymorphic, because it is comprised of two loci. Most (2677 out of a total of 2806 distinct haplotypes) of the 16 marker haplotypes observed in the sample populations were represented only once in the data set. Haplotype diversities were greater than 99.57% for the Chinese, Malay, Thai, Japanese, and Indian sample populations. For the Y STR markers, population substructure correction was considered when calculating the rarity of a Y STR profile. An F_ST value, rather than a R_ST value, is more appropriate under a forensic model. Because the F_ST values are very small within the Asian populations, the estimate of the rarity of a haplotype comprised of 10–16 markers does not need substructure correction. However haplotypes with fewer markers may require F_ST corrections when calculating the rarity of the profile.     

Polymorphisms of six Y-chromosome STRs in a Chinese population

The polymorphic short tandem repeat (STR) loci of six Y-chromosome markers were investigated in 112 unrelated Chinese males using a multiplex polymerase chain reaction (PCR). Allele and haplotype frequencies for the Y-specific STR loci DYS19, DYS385, DYS389II, DYS390, DYS391 and DYS393 were analyzed by the Y-PLEX 6 Kit. The commonest allele for each locus was: DYS19, allele 15; DYS385, allele 12; DYS389II, allele 28; DYS390, allele 23; DYS391, 10; and DYS393, allele 12. Gene diversity value was calculated from the allelic frequency for each locus. The DYS385 locus proved to be highly polymorphic (0.890), DYS391 showed the lowest value (0.489), and the other loci showed values ranging from 0.646 to 0.897. A total of 99 haplotypes were observed in six Y-specific STR loci, the haplotype diversity was raised to 0.999. The results revealed that a set of six Y-specific STR loci were able to discriminate most of the male individuals in the Chinese population.     

Polish population study on Y chromosome haplotypes defined by 18 STR loci

Polymorphism of 18 STR loci specific to the human Y chromosome (DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS426, DYS437, DYS438, DYS439, DYS460, GATA H4.1, DYS385 a/b, and YCAII a/b) was evaluated by means of a multiplex (octadecaplex) PCR reaction and capillary electrophoresis in a Polish population sample of 208 unrelated males. A total of 192 different haplotypes and 183 unique haplotypes were identified. The observed haplotype diversity was 0.998, while discrimination capacity was 92.3%. DYS389 was shown to be the most valuable in discrimination of similar haplotypes, whereas DYS388, DYS393, DYS426, and DYS438 did not affect the discrimination power of the multiplex.Electronic Supplementary Material Supplementary material is available for this article at .     

Haplotype frequencies of eight Y-chromosome STR loci in Barcelona (North-East Spain)

Haplotype frequencies for eight Y-chromosomal short tandem repeat (STR) loci were determined in ¶a population sample from Barcelona (NE Spain). After PCR amplification and denaturing PAGE electrophoresis, DYS19, DYS388, DYS389 I/II, DYS390, DYS391, DYS392 and DYS393 loci were typed. Complete eight ¶Y-chromosomal STRs haplotypes could be formed for 223 subjects, among which 137 different haplotypes were observed. The most common haplotype was shared by 13% of the sample, while 108 haplotypes were unique. The discrimination capacity was 61.5% and the gene diversity was 0.978. From the forensic point of view the combined polymorphisms provide a high diagnostic efficiency.     

Population genetics of Y-chromosome STRs in a population of Northern Greeks

Seventeen Y STR loci were typed in a population sample of 191 unrelated male individuals from Northern Greece. Haplotypes are presented for the following loci: DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4, DYS437, DYS438 and DYS448. The overall haplotype diversity was 0.9992. This database study provides significant additional information for the application of Y-chromosomal STRs to forensic identification efforts in Greece by nearly doubling both the number of individuals and the number of Y-loci typed from Greek populations. These samples have been previously typed for autosomal STRs [L. Kovatsi, T.J. Parsons, R.S. Just, J.A. Irwin, Genetic variation for 15 autosomal STR loci (PowerPlex 16) in a population sample from northern Greece, Forensic Sci. Int. 159 (2006) 61–63] and the mitochondrial DNA control region [J. Irwin, J. Saunier, K. Strouss, C. Paintner, T. Diegoli, K. Sturk, L. Kovatsi, A. Brandstatter, M.A. Cariolou, W. Parson, T.J. Parsons, Mitochondrial control region sequences from northern Greece and Greek Cypriots, Int. J. Legal Med. 122 (2008) 87–89].     

Haplotype diversity of 17 Y-STR loci in a Chinese Han population sample from Shanxi Province,Northern China

The distribution of 17 Y-chromosome STR loci DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448 haplotypes was determined in a population sample of 222 unrelated Chinese Han from Shanxi Province, Northern China. A total of 219 haplotypes were observed, and of these, 216 were unique, while 3 were found two times. The overall haplotype diversity was 0.9999 and the discrimination capacity was 0.9865, indicating a high potential for differentiating between male individuals in this population. Comparison analysis via Analysis of Molecular Variance (AMOVA) and construction of MDS plot revealed that Shanxi Han sample clusters with Chinese origin populations and stands far apart of the non-Chinese populations, justifying the establishment of local databases in Shanxi Han population for any future forensic and genetic epidemiology efforts in this region.     

Y-Chromosomal STR haplotypes in a population from north west Germany

We present a German Y-chromosome short tandem repeat (STR)-haplotype database consisting of the loci DYS19, DXYS156-Y, subtypes of DYS389, DYS390, DYS391, DYS392 and as well as DYS393. 104 haplotypes were observed in 179 unrelated Germans, the haplotype diversity is 98.06%. This database is a prerequisite for the forensic application of these new markers.     

Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci

A male sample of 135 African descendents from the Rio de Janeiro population were typed for the 12 Y-chromosome short tandem repeat (STR) loci included in the PowerPlex Y System. A high haplotype diversity was observed (0.9971), with 91% of haplotypes being unique, demonstrating the usefulness and informative power of this Y-STR set in male lineage identification. Samples with shared haplotypes were additionally typed with the Yfiler kit, which includes five extra markers. The haplotype diversity when using the 17-Yfiler loci increased to (0.9998) with 97% unique haplotypes. The same set of Y-STRs was also typed in 135 father/son pairs and three single-step mutations were observed: one at DYS19 and two at DYS385. Genetic distance analysis showed highly significant differences in all pairwise comparisons between this sample of African descendents and the general population from Rio de Janeiro, as well as with Iberian and African samples from Portugal, Mozambique, Angola and Equatorial Guinea. Comparisons with samples from other regions in Brazil showed that heterogeneity does exist, indicating that a Y-haplotype database for the whole country should take into account the population sub-structure. Moreover, a strong European influence was detected, and thus, a Y-chromosome STR profile proves a rather poor indicator for the ethnic origin of an individual in Rio de Janeiro. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10

The Y-specific STR loci DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS434, DYS437, DYS438, DYS439 and GATA A10 were studied in a northern Portuguese population. Haplotype and allele frequencies of these 14 Y-chromosome STRs were estimated. In a sample of 212 individuals it was possible to define 196 different haplotypes of which 182 were found only once, 12 were found in 2 samples and the 2 most frequent haplotypes were shared by only 3 individuals. The observed haplotype diversity value was 0.9992. The usefulness of the inclusion of each of these new markers for forensic purposes is discussed by comparing expected and observed increases in haplotype diversity. When combining the new markers (DYS434, DYS437, DYS438, DYS439 and GATA A10) with the classical set (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393) a 0.68% increase in haplotype diversity was obtained and the number of different haplotypes rose from 157 to 196. When DYS434 was not considered the haplotype diversity was not affected. Received: 18 June 2001 / Accepted: 23 October 2001     

Y-chromosome STR haplotypes in a Bangladeshi population

Allele frequencies and haplotypes for 10 Y-chromosome STR loci, DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438 and DY439, were determined in 72 unrelated Bangladeshi males using Y-PLEX5 and Y-PLEX6 Amplification Kits. This population demonstrated 71 haplotypes, of which 70 were unique. The haplotype diversity calculated from the 10 Y-STR loci was 0.9996 and the discrimination capacity was 0.9861.     

Genetic sub-structure in western Mediterranean populations revealed by 12 Y-chromosome STR loci

Haplotype and allele frequencies of 12 Y-chromosome short tandem repeat (Y-STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 a/b, DYS437, DYS438 and DYS439) included in the Powerplex® Y System were determined in seven western Mediterranean populations from Valencia, Majorca, Ibiza (eastern Spain), Sicily and three Calabrian provinces (southern Italy). Amongst the 554 males included in the study, 443 different haplotypes were observed of which 372 were only observed once. The other haplotypes were shared by two to seven men. The overall haplotype diversity was 0.9988?±?0.0002. These Y-STRs markers showed a low capacity of discrimination (56.3%) in the Ibiza population probably due to genetic drift. Comparisons between the populations studied and other neighbouring populations showed a clear genetic sub-structure in the western Mediterranean area.     

Genetic population analysis of 17 Y-chromosomal STRs in three states (Valle del Cauca,Cauca and Nariño) from Southwestern Colombia

Seventeen Y-chromosomal (DYS19, DYS389 I/II, DYS390, DYS391, DYS392, DYS393, DYS438, DYS439, DYS437, DYS448, DYS456, DYS458, DYS635, YGATA-H4 and DYS385a/b) short tandem repeat (STR) polymorphic systems were typed in three South West Colombian populations: Valle (short term for Valle del Cauca), Cauca and Nariño. DYS385a/b showed the highest gene diversity in the three populations. A total of 287 different Y-chromosome haplotypes were observed in the 308 males analyzed, and the haplotype diversity among populations was 0.9977. The most frequent haplotype was observed only three times and only nineteen others were observed two times. The highest gene diversity was found in Valle and the lowest in Cauca. Analysis of molecular variance (AMOVA) revealed that variation is mainly within populations (99.1%) in agreement with previous results in European populations. In conclusion, these populations could be pooled together in order to create one “Colombian-Mestizo” database for forensic use.     

Genetic population study of 11 Y chromosome STR loci in Greece

Statistical properties of eleven Y chromosome Short Tandem Repeat (STR) markers were analyzed (DYS391, DYS389I, DYS439, DYS389II, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390 and DYS385) in a Greek population sample. The 200 subjects where distributed across Greece, from various Peripheries. 182 distinct haplotypes were found. To validate our results gene diversity has been calculated for the whole population, as well as for each locus individually. Genetic distance has been estimated between this population and Albanian, Egyptian, Italian and Turkish populations. The results indicate that all Y loci are useful for forensic sciences.     

Genetic diversity of 17 Y-short tandem repeats in Indian population

Seventeen short tandem repeats (DYS389I, DYS390, DYS389II, DYS19, DYS385a/b, DYS393, DYS391, DYS392, DYS439, DYS438, DYS456, DYS458, DYS635, Y(GATA)H4, DYS437, and DYS448) from the non-recombining region of the human Y-chromosome were analyzed in 750 unrelated males representing four major linguistic families of India using AmpFlSTR(?) Yfiler(?) PCR Amplification kit. A total of 612 distinct haplotypes were observed, of which 545 were unique. Rare alleles for the loci DYS456, DYS458, DYS635, Y(GATA)H4, and duplication at the loci DYS389I and DYS389II were also observed. To understand the genetic diversity of the Indian population, and utility of Y-STRs in forensics, the locus diversity, haplotype diversity, and discrimination capacity in all populations was determined. MDS plot based on pairwise Φ(st) and AMOVA revealed the high genetic heterogeneity among the Indian populations due to linguistic diversity and social stratification.